ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) (rs138328181)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413289 SCV000491924 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing The S4513N variant in the SACS gene has been reported in the heterozygous state along with two other variants in the SACS gene, phase unknown, in one individual with early-onset ataxia and spasticity (Synofzik et al., 2013). The S4513N variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S4513N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret S4513N as a variant of uncertain significance.
Natera, Inc. RCV001274915 SCV001459468 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.